Links from Nucleotide
Items: 1 to 20 of 58
1.
rs1490660271 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATATATGT,ATATATGT,ATATGT,GT,TT
[Show Flanks]
- Chromosome:
- X:17557347
(GRCh38)
X:17575469
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557347:T:TATATATATGT,NC_000023.11:17557347:T:TATATATGT,NC_000023.11:17557347:T:TATATGT,NC_000023.11:17557347:T:TGT,NC_000023.11:17557347:T:TTT
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.17557348TA[4]TGT[1], NC_000023.11:g.17557348TA[3]TGT[1], NC_000023.11:g.17557348TA[2]TGT[1], NC_000023.11:g.17557348_17557349insGT, NC_000023.11:g.17557348_17557349insTT, NC_000023.10:g.17575469TA[4]TGT[1], NC_000023.10:g.17575469TA[3]TGT[1], NC_000023.10:g.17575469TA[2]TGT[1], NC_000023.10:g.17575469_17575470insGT, NC_000023.10:g.17575469_17575470insTT, NG_011553.2:g.186929TA[4]TGT[1], NG_011553.2:g.186929TA[3]TGT[1], NG_011553.2:g.186929TA[2]TGT[1], NG_011553.2:g.186929_186930insGT, NG_011553.2:g.186929_186930insTT, NR_046632.1:n.57_58insCATATATATA, NR_046632.1:n.57_58insCATATATA, NR_046632.1:n.57_58insCATATA, NR_046632.1:n.57_58insCA, NR_046632.1:n.57_58insAA
2.
rs1488381859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- X:17557380
(GRCh38)
X:17575501
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557379:A:C,NC_000023.11:17557379:A:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
C=0.000019/5
(TOPMED)
G=0.000045/1
(TOMMO)
- HGVS:
3.
rs1487087495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:17557309
(GRCh38)
X:17575430
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557308:A:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000011/1
(GnomAD)
- HGVS:
4.
rs1473320642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:17559112
(GRCh38)
X:17577233
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17559111:T:A
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000029/3
(GnomAD)
- HGVS:
5.
rs1463776748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:17552400
(GRCh38)
X:17570521
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17552399:G:C
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
6.
rs1448508696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:17557280
(GRCh38)
X:17575401
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557279:C:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/2
(GnomAD)
- HGVS:
7.
rs1433210336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:17557228
(GRCh38)
X:17575349
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557227:A:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
8.
rs1432728844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- X:17557233
(GRCh38)
X:17575354
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557232:C:G,NC_000023.11:17557232:C:T
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
9.
rs1431341652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:17552365
(GRCh38)
X:17570486
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17552364:G:A
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
10.
rs1424719995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:17557264
(GRCh38)
X:17575385
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557263:T:C
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
11.
rs1421895186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:17552405
(GRCh38)
X:17570526
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17552404:G:A
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
12.
rs1394663378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:17552395
(GRCh38)
X:17570516
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17552394:C:T
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1373274324 has merged into rs61711287 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- X:17557343
(GRCh38)
X:17575464
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000023.11:17557326:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATAT=0./0
(
ALFA)
-=0.10649/402
(1000Genomes)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000023.11:g.17557327AT[8], NC_000023.11:g.17557327AT[9], NC_000023.11:g.17557327AT[10], NC_000023.11:g.17557327AT[12], NC_000023.11:g.17557327AT[13], NC_000023.11:g.17557327AT[14], NC_000023.11:g.17557327AT[15], NC_000023.11:g.17557327AT[16], NC_000023.11:g.17557327AT[17], NC_000023.11:g.17557327AT[18], NC_000023.11:g.17557327AT[19], NC_000023.11:g.17557327AT[20], NC_000023.11:g.17557327AT[21], NC_000023.11:g.17557327AT[23], NC_000023.10:g.17575448AT[8], NC_000023.10:g.17575448AT[9], NC_000023.10:g.17575448AT[10], NC_000023.10:g.17575448AT[12], NC_000023.10:g.17575448AT[13], NC_000023.10:g.17575448AT[14], NC_000023.10:g.17575448AT[15], NC_000023.10:g.17575448AT[16], NC_000023.10:g.17575448AT[17], NC_000023.10:g.17575448AT[18], NC_000023.10:g.17575448AT[19], NC_000023.10:g.17575448AT[20], NC_000023.10:g.17575448AT[21], NC_000023.10:g.17575448AT[23], NG_011553.2:g.186908AT[8], NG_011553.2:g.186908AT[9], NG_011553.2:g.186908AT[10], NG_011553.2:g.186908AT[12], NG_011553.2:g.186908AT[13], NG_011553.2:g.186908AT[14], NG_011553.2:g.186908AT[15], NG_011553.2:g.186908AT[16], NG_011553.2:g.186908AT[17], NG_011553.2:g.186908AT[18], NG_011553.2:g.186908AT[19], NG_011553.2:g.186908AT[20], NG_011553.2:g.186908AT[21], NG_011553.2:g.186908AT[23], NR_046632.1:n.57AT[8], NR_046632.1:n.57AT[9], NR_046632.1:n.57AT[10], NR_046632.1:n.57AT[12], NR_046632.1:n.57AT[13], NR_046632.1:n.57AT[14], NR_046632.1:n.57AT[15], NR_046632.1:n.57AT[16], NR_046632.1:n.57AT[17], NR_046632.1:n.57AT[18], NR_046632.1:n.57AT[19], NR_046632.1:n.57AT[20], NR_046632.1:n.57AT[21], NR_046632.1:n.57AT[23]
14.
rs1338123591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:17552352
(GRCh38)
X:17570473
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17552351:A:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000019/2
(GnomAD)
- HGVS:
15.
rs1335641263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- X:17552390
(GRCh38)
X:17570511
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17552389:A:G,NC_000023.11:17552389:A:T
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
G=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
16.
rs1330010282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:17552364
(GRCh38)
X:17570485
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17552363:G:A
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000029/3
(GnomAD)
- HGVS:
17.
rs1328155490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:17552382
(GRCh38)
X:17570503
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17552381:C:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
18.
rs1319253386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:17557202
(GRCh38)
X:17575323
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557201:G:C
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
19.
rs1317386900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:17557219
(GRCh38)
X:17575340
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557218:G:T
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS: